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- Mototsugu Watanabe, Kohji Tanakaya, Shinichi Furukawa, Toshio Shiotani, Yumiko Sato, Fumitaka Taniguchi, Nobuhiko Kanaya, Hideki Aoki, Koukichi Sugano, Hideyuki Ishida, Kiwamu Akagi, and Kazuhiko Kataoka.
- Department of Thoracic Surgery, Iwakuni Clinical Center, Japan.
- Intern. Med. 2023 Feb 15; 62 (4): 649653649-653.
AbstractWe herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor resection. No relapse has been reported thus far. In Case 2, a 43-year-old man underwent genetic testing that also showed a pathogenic germline variant in MLH1. Since these two cases had MLH variants, we suspect a possible association between thymic cancer with Lynch syndrome and germline pathogenic variants in MLH1.
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